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Article

Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: report of 2 patients and literature review.

Journal of pediatric surgery - 1 May 2008

Nakakimura Shigeru, Sasaki Fumiaki, Okada Tadao, Arisue Atsuhiro, Cho Kazutoshi, Yoshino Masami, Kanemura Yonehiro, Yamasaki Mami, Todo Satoru

Abstract excerpt

The L1 cell adhesion molecule (L1CAM) protein is found primarily in the nervous system and is important in neuronal adhesion, migration, neurite outgrowth, and myelination. It is extremely rare that Hirschsprung's disease (HSCR) merges with a disorder showing abnormality of the L1CAM genes such as acrocallosal syndrome (ACS) or X-linked hydrocephalus (XLH). Herein, we report 2 cases--the first showed abnormality...

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Identifiers

PMID: 18485929
DOI: 10.1016/j.jpedsurg.2007.12.069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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